J Korean Med Sci.  2007 Feb;22(1):127-131. 10.3346/jkms.2007.22.1.127.

HLA-DQB1 Allele and Hypocretin in Korean Narcoleptics with Cataplexy

• Jeong JH
• Hong SC
• Shin YK
• Han JH
• Lee SP

• KMID: 1713251
• DOI: http://doi.org/10.3346/jkms.2007.22.1.127

Abstract

Cataplexy is one of the most pathognomonic symptoms in narcolepsy. This study was designed to investigate the frequency of the HLA-DQB1 allele and cerebrospinal fluid (CSF) hypocretin levels in Korean narcoleptics with cataplexy as compared with those who do not have cataplexy. Seventy-two narcoleptics were selected based on polysomnography and multiple sleep latency test as well as their history and clinical symptoms at Sleep Disorders Clinic. The patients were divided into a narcolepsy with cataplexy group (n=56) and a narcolepsy without cataplexy group (n=16). All patients were subjected to HLA typing to determine the frequency of DQB1 allele and to spinal tapping to measure the level of CSF hypocretin. In cataplexy-positive patients, as compared with cataplexy-negative patients, the frequency of HLA-DQB1*0602 was found to be significantly high (89.3% vs. 50.0%) (p=0.003). On the other hand, the frequency of HLA-DQB1*0601 was found to be significantly low (0% vs. 43.8%) (p<0.001). In 48 of 56 cataplexy-positive patients (85.7 %), hypocretin levels were decreased (< or =110 pg/mL). However, only 6 of 16 cataplexy-negative patients (37.5%) exhibited a decreased hyopcretin level (p<0.001). The high frequency of HLA-DQB1*0602, low frequency of HLA-DQB1*0601 and low hypocretin levels in cataplexy-positive groups suggest that cataplexy-positive narcolepsy might be an etiologically different disease entity from the cataplexy-negative.

Keyword

Narcolepsy; Cataplexy; HLA-DQBbeta antigen; Hypocretin; Orexins

MeSH Terms

Sleep, REM
Neuropeptides/*cerebrospinal fluid
Narcolepsy/cerebrospinal fluid/*genetics
Middle Aged
Male
Intracellular Signaling Peptides and Proteins/*cerebrospinal fluid
Humans
HLA-DQ Antigens/*genetics
Female
Child
Cataplexy/cerebrospinal fluid/*genetics
*Alleles
Aged
Adult
Adolescent

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